Cornelia de Lange Syndrome | CHOP Research Institute

Dr. Jyonouchi, is an attending physician with the Division of Allergy and Immunology and the Center for Cornelia de Lange Syndrome and Related Diagnoses at Children's Hospital of Philadelphia. His research focuses on immunodeficiency in Cornelia de Lange syndrome and other genetic syndromes, and asthma.

E-mail:

jyonouchi [at] chop.edu

Training Program in Neurodevelopmental Disabilities

Fostering the careers of the next generation of scientists who seek to discover causes and potential treatments for the class of disorders known as neurodevelopmental disabilities.

Roberts Individualized Medical Genetics Center

Providing state-of–the-art, individualized clinical support to children and families undertaking genetic and genomic testing. Offering interpretative and educational support to clinicians pursuing this testing for their patients.

Roberts Individualized Medical Genetics Center Breaking Down Silos to Share Data

Published on

Oct 30, 2019

in Cornerstone Blog

Roberts Individualized Medical Genetics Center’s team

Roberts Individualized Medical Genetics Center’s new large genetic database and portal is now accessible to all CHOP investigators.

Matthew A. Deardorff , MD, PhD

Dr. Deardorff’s work integrates patient information with genomics and cell biology to diagnosis and understand rare genetic disease. His research focuses on disorders caused by dysregulation of chromatin or altered translational regulation, specifically, Cornelia de Lange, Coffin-Siris, Skraban-Deardorff and KBG syndromes.

E-mail:

deardorff [at] chop.edu

Pathways in Cornelia de Lange Syndrome Open New Possibilities

Published on

May 9, 2015

in Cornerstone Blog

Finding out Cornelia de Lange Syndrome (CdLS) causes could be extremely important to understanding human development at all levels, which is why Ian Krantz, MD, medical director of the Center for Cornelia de Lange Syndrome and Related Diagnosis at CHOP, and his colleagues have dedicated the past two decades to research that is piecing together the basic biology of CdLS.